Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region. Affected individuals suffer from hyperphagia, lack of satiation, intellectual disability, and behavioral problems. Children with fragile X syndrome Prader-Willi phenotye and those with Prader Willi syndrome have clinical and molecular similarities reviewed here which will impact new treatment options for both disorders.

Original languageEnglish
Pages (from-to)255-261
Number of pages7
JournalIntractable and Rare Diseases Research
Issue number4
StatePublished - 2016


  • Autism
  • FMR1 gene
  • Fragile X syndrome (FXS)
  • Growth hormone
  • Hyperphagia
  • IGF-1
  • Prader-Willi phenotype


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